Oncogenic osteomalacia secondary to hemangiopericytoma: a case report

<p>We are going to present a case of hypo-phosphatemic rickets secondary to phosphaturic mesenchymal tumour who came with complaints of proximal muscle weakness which limited his effort tolerance and activities of daily life like standing from squatting position and rib pain. His FGF-23 levels were very high above normal levels and PET CT revealed a well-defined enhancing lesion abutting femoral neurovascular bundle. After consultation with endocrinologist, we have d done complete excision of the mass. Post-surgery all symptoms were relieved, proximal muscle strength improved gradually and serum levels of phosphorus, ALP and FGF-23 came back to normal.</p>

A rare case of aggressive primary pulmonary synovial sarcoma: A case report

Synovial sarcoma is a malignant mesenchymal tumour which mostly affects young adults and is mostly seen in extremities. Primary synovial sarcoma arising from the lung is rare, accounting for less than 0.5% of all lung carcinomas. Most commonly it arises from the lung followed by pleura and mediastinum. Primary pulmonary synovial sarcoma is an extremely aggressive malignant tumour that can invade adjacent organs and give distant metastasis. Histologically it is of two main types – monophasic and biphasic. IHC is a must for diagnosis following clinical examination and imaging. Here we report a case of an elderly male with right lung mass lesion infiltrating the visceral and mediastinal pleura. PET – computerized tomography (CT) guided biopsy was s/o synovial sarcoma monophasic type which was further confirmed by IHC. The multimodality treated for this includes wide resection, chemotherapy and radiotherapy. Synovial sarcoma is relatively chemosensitive though it is considered as a high grade tumour with a poor prognosis. Because of the advanced stage of the disease our patient was not a candidate for surgery and was taken up for chemotherapy. He had a survival of 6 months but had succumbed due to non – cancer related cause.

Malignant giant solitary fibrous tumour of the mediastinum; masquerading Triton tumour

Background Malignant Solitary fibrous tumour (SFT) is an uncommon mesenchymal tumour with aggressive clinical behaviour as compared to its benign counterpart. There are only a handful of reports of extra-pleural malignant SFT arising from the mediastinum. Case presentation A 68-year-old male, presented with a history of cough and breathlessness for 2 weeks. Computed tomography (CT) scan revealed a large 11.6 × 11.3x18cm anterior mediastinal mass with extension to right hemithorax. The patient underwent excision of the mass after a biopsy confirmation of mesenchymal tumour. Histological examination of resection specimen revealed a spindle cell tumour with hypo and hypercellular areas, arranged in fascicular, focal storiform and hemangio-pericytomatous vasculature pattern. Moderate to marked nuclear atypia, frequent mitosis and areas of necrosis were noted. On immunohistochemistry (IHC), the tumour cells were positive for CD34, Bcl2, MIC2 (dot-like) and focally for S100 and Desmin. Although, the possibility of a malignant peripheral nerve sheath tumour with heterologous rhadomyosarcomatous differentiation (Triton tumour) was considered, however IHC for STAT6 confirmed it to be a malignant SFT. The patient developed recurrence within 1 year after surgery and despite multi-modality treatment (Re-excision, Chemotherapy and Radiotherapy) succumbed within 14 months from point of presentation. Conclusion Malignant SFT is a rare aggressive tumour that should be considered as a differential diagnosis in the mediastinum and a broad panel of IHC markers including STAT6 may be required to confirm the diagnosis.

Intracranial myxoid mesenchymal tumour with EWSR1-ATF1 fusion mimicking high grade glioma

Aims Molecular profiling is increasingly used in the diagnosis of CNS and non-CNS neoplasms. More than a quarter of all soft tissue tumours are characterized by specific recurrent chromosomal translocations which can be used as molecular signatures. With increasing frequency, EWSR1 rearrangements are found on both mesenchymal tumours and primary glial/neuronal tumours. Here we present a case of intracranial myxoid mesenchymal tumour (IMMT), a rare tumour which is becoming more recognised in recent years, affecting mainly children and young adults, and rarely older adults. It can be found in intraaxial and extraaxial location, with frequent dural connection. The tumour is defined by the genetic hallmark of EWSR1-CREB family gene fusion. Including our case, 16 intracranial tumours with this gene fusion have been reported to date. Our goal is to contribute further to the characterisation of the morphological spectrum, fusion partners and biological behaviour of rare EWSR1-CREB (non-ETS)-rearranged tumours of the CNS. Method Case: The patient is a 27 year old woman with a frontal lobe lesion, radiologically described as a tumour with dural attachment. She underwent surgical debulking, and tumour tissue was histologically examined with conventional immunohistochemistry. Additional genetic testing included targeted mutation screening, FISH, EPIC (Illumina BeadChip) methylation array and next generation sequencing. Histology showed a mitotically active neoplasm with relatively uniform cells, round nuclei and oligodendroglioma-like clear cell change, but no myxoid change. Glomeruloid microvascular proliferation and large areas of tumour necrosis were present. Immunohistochemistry was focally positive for GFAP, and negative or normal for synaptophysin, IDH1 R132H mutation, ATRX and p53. The ki-67 index reached ~20%. Sequencing of IDH1 and IDH2 did not reveal rare IDH mutations, and FISH did not show 1p19q codeletion. Testing for BRAF V600 mutation was negative. Results Although the histology initially suggested a diagnosis of oligodendroglioma, the integrated diagnosis was compatible with glioblastoma, IDH wildtype. Methylation array analysis by EPIC array did not result in classification of currently known entities, neither confirming glioblastoma, nor providing a new diagnosis, when analysed on both brain tumour and sarcoma classifier. This suggested a novel tumour entity not yet represented in the classifier algorithm. Additional testing including next generation sequencing revealed EWSR1 gene rearrangement with fusion partner ATF1 (EWSR1-ATF1 fusion). Based on this, the diagnosis was revised to the emerging new entity of ‘intracranial myxoid mesenchymal tumor’ (IMMT) characterised by EWSR1 fusion with members of the cAMP response element binding protein (CREB) family (ATF1, CREB1 and CREM). Subsequent immunohistochemistry demonstrated positive staining for CD99 and EMA but not desmin. The patient underwent various oncological treatments and is recurrence-free 3 years after initial diagnosis. Conclusion Histologically, IMMT demonstrates a spectrum of features that overlaps with other tumours, but often displays circumscribed growth, uniform cellularity, cytoplasmic clearing and variable myxoid change. The clinical behaviour of these tumours is not fully understood, however provisionally considered intermediate grade. EWSR1-CREB family fusion is not specific but shared with a diverse group of extracranial tumours including soft tissue, salivary gland, odontogenic and myoepithelial tumours. Therefore, clinico-radiologico-pathological correlation is essential to achieve the final diagnosis, and ensure the absence of a primary tumour elsewhere. Familiarisation with IMMT, its characteristic genetic profile and its as yet underreported natural course is crucial, as it can clinically mimic other intracranial tumours such as malignant meningioma or glioma but appears to behave less aggressively than high grade glioma. It is also important to further our understanding of its optimal treatment through review of larger case series and global comparison of patient management.

Nodular Fasciitis and Myxolipoma of the Larynx

Nodular fasciitis (NF) is a peculiar, rapid-growing soft tissue lesion, typically appearing in subcutaneous tissue. 20% of NF occur in the head and neck region, where they can involve any anatomic site. Laryngeal involvement, however, is quite rare. On the contrary, Lipoma is recognized as a slow growing, benign mesenchymal tumour. Myxolipoma is a rare variant which has a prominent myxoid background. Laryngeal lipoma is infrequent, accounting for only 0.6% of all benign laryngeal lesions. Here, we report a unique case of adult laryngeal nodular fasciitis coexisting with myxolipoma in a 61-year-old male patient, describing their clinical and histopathological features, the strategies used to treat such conditions along with a brief review of the literature. The purpose is to broaden the differential diagnosis of rapid-growing laryngeal masses that cause airway obstruction and to stress the significance of integrative interdisciplinary collaboration on reaching an accurate diagnosis, thereby allowing proper management for benign pathologies and avoiding any futile aggressive treatment. Keywords: Nodular fasciitis, Larynx, Stridor, Myxolipoma.

Vulvar aggressive angiomyxoma: a surgical challenge

Aggressive angiomyxoma is a rare and locally aggressive mesenchymal tumour, predominantly occurring in women of reproductive age group. The term aggressive is attributed to the infiltrative nature and frequent local recurrences. They arise commonly from the vulvovaginal region, perineum or pelvis and are usually misdiagnosed as other common entities in these regions. Radiological investigations aid in the diagnosis and planning of surgery. However, the final diagnosis in most of the cases is established by histopathological examination. We herein report a case of a middle-aged woman presenting with recurrent large right vulvar mass highlighting the surgical challenges posed by its intrapelvic extension.

Heavily Calcified Gastrointestinal Stromal Tumour of Stomach: A Diagnostic Dilemma

Gastrointestinal stromal tumours (GIST) are the most common mesenchymal tumour of gastrointestinal tract and the stomach being the most commonly involved organ. Focal calcification may be seen in GIST but prominent or heavy calcification is rare. Gastric mass with prominent calcification on imaging may create a diagnostic dilemma. We present a rare case of gastric GIST with heavy calcification in a 55 years old female presenting with abdominal lump. Computed tomography (CT) showed a large heterogenous juxta gastric mass with solid-cystic component with heavy calcification. She underwent laparotomy and en-bloc gastric sleeve resection with the mass. Microscopic examination showed tumour with spindle cell and calcification with mitotic index of 6/50 High power field. Immunoreactivity with Vimentin, CD34 and DOG 1 confirmed diagnosis of GIST. Dystrophic calcification of necrotic or degenerative tissue is thought to be cause of calcification in GIST. Very few cases of heavily calcified GIST have been reported in literature, our case is of interest because presence of solid cystic component and a huge size ~ 14 cm (longest diameter).

A Rare Case of Broad Ligament Angioleiomyoma

Angioleiomyoma aka Vascular leiomyoma is a benign mesenchymal tumour originating from the smooth muscles and containing thick walled vessels. It is commonly seen in the subcutis of the lower extremities. Although a few cases of uterine angioleiomyoma have been reported, broad ligament angioleiomyoma is extremely rare. Case History: 45 year old multiparous women presented to the OPD with complains of pain and mass in abdomen since 4 months. No history of menstrual irregularities was noted. Ultrasonography revealed a homogenous solid mass in lower abdomen region. The mass was hypodense. A provisional clinical radiological diagnosis of Broad ligament fibroid was made. The patient underwent a surgery for removal of broad ligament mass with bilateral salpingo-oophorectomy and specimen was submitted for histopathological examination. Conclusion: Angioleiomyoma of broad ligament is an extremely rare diagnosis and should be diagnosed correctly with the help of IHC markers.It must be kept in mind as a differential diagnosis of abdominal mass associated with pain to be able to arrive at a correct diagnosis. Keywords: Angioleiomyoma, broad ligament, vascular leiomyoma, mesenchymal tumour, broad ligament fibroid.